X-linked intellectual disability due to GRIA3 mutations
A rare genetic X-linked syndromic intellectual disability disorder characterized by moderate to severe intellectual disability associated with epilepsy short stature autistic features and behavioral problems such as self injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly prominent supraorbital ridges and deep set eyes. Additional variable manifestations include malposition of feet asthenic habitus hyporeflexia bowel occlusions hydronephrosis ren arcuatus delayed motor development and disturbed sleep-wake cycle.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
X-linked intellectual disability due to GRIA3 mutations?
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Advocacy Organizations
CureGRIN Foundation
CureGRIN Foundation is dedicated to improving the lives of people around the world with GRI Disorder, and their families, through research, education and connectivity. We work closely with scientists and the medical community to drive patient-centered research that will lead to treatments and cures.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.